Research

DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk

Dominique Bernard-Gallon^1,2 , Rémy Bosviel^1,2 , Laetitia Delort^1,2 , Luc Fontana^3,4 , Alain Chamoux^3,4 , Nadège Rabiau^1,2 , Fabrice Kwiatkowski^1,2 , Nasséra Chalabi^1,2 , Samir Satih^1,2 and Yves-Jean Bignon^1,2,3

¹Département d'Oncogénétique du Centre Jean Perrin, EA 2416 CBRV, 28 Place Henri Dunant, B.P. 38, 63001 Clermont-Ferrand Cedex 01, France

²CRNH, 58 rue Montalembert, 63009 Clermont-Ferrand Cedex 01, France

³Univ Clermont 1, UFR Médecine, Institut de Médecine du Travail, 28 place Henri Dunant, 63001 Clermont-Ferrand, France

⁴CHU Clermont-Ferrand, Service Santé Travail Environnement, 28 place Henri Dunant, 63001 Clermont-Ferrand cedex, France

author email corresponding author email

Molecular Cancer 2008, 7:36doi:10.1186/1476-4598-7-36

Published:	2 May 2008

Abstract

Breast and ovarian cancers increased in the last decades. Except rare cases with a genetic predisposition and high penetrance, these pathologies are viewed as a polygenic disease. In this concept, association studies look for genetic variations such as polymorphisms in low penetrance genes, i.e. genes in interaction with environmental factors. DNA repair systems that protect the genome from deleterious endogenous and exogenous damages have been shown to have significantly reduced. In particular, enzymes of the nucleotide excision repair pathway are suspected to be implicated in cancer. In this study, 2 functional polymorphisms in a DNA repair gene ERCC2 were analyzed. The population included 911 breast cancer cases, 51 ovarian cancer cases and 1000 controls. The genotyping of 2 SNP (Single Nucleotide Polymorphism) was carried out on the population with the MGB (Minor Groove Binder) probe technique which consists of the use of the allelic discrimination with the Taqman^® method. This study enabled us to show an increase in risk of breast cancer with no oral contraceptive users and with women exhibiting a waist-to-hip ratio (WHR) > 0.85 for Asn homozygous for ERCC2 312.